Variant report

Variant	rs373765895
Chromosome Location	chr22:31741632-31741633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr22:31741294-31742187	ECC-1	luminal epithelium:	n/a	chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31741681-31741697
2	TCF12	chr22:31741551-31741743	GM12878	blood:	n/a	n/a
3	CTCF	chr22:31741427-31742121	GM19238	blood:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742043-31742056 chr22:31741936-31741952
4	POLR2A	chr22:31738526-31742192	GM12892	blood:	n/a	n/a
5	EP300	chr22:31741499-31742586	ECC-1	luminal epithelium:	n/a	chr22:31741592-31741601 chr22:31741945-31741961 chr22:31741944-31741953 chr22:31742342-31742351 chr22:31742269-31742285 chr22:31741946-31741955
6	CHD2	chr22:31741453-31742067	H1-hESC	embryonic stem cell:	n/a	chr22:31741625-31741635
7	POLR2A	chr22:31738456-31744066	MCF-7	breast:	n/a	n/a
8	POLR2A	chr22:31741618-31742165	HepG2	liver:	n/a	n/a
9	TCF12	chr22:31741374-31742605	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr22:31741313-31742050	GM12891	blood:	n/a	n/a
11	POLR2A	chr22:31738630-31742577	GM12892	blood:	n/a	n/a
12	POLR2A	chr22:31741151-31744106	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr22:31740214-31742000	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr22:31739492-31744047	Raji	blood:	n/a	n/a
15	POLR2A	chr22:31741613-31742177	GM12891	blood:	n/a	n/a
16	YY1	chr22:31741485-31742579	HepG2	liver:	n/a	chr22:31741589-31741598 chr22:31741944-31741958 chr22:31742268-31742277 chr22:31742324-31742332 chr22:31742049-31742063 chr22:31742318-31742337 chr22:31741941-31741955 chr22:31741592-31741601 chr22:31741590-31741604 chr22:31742325-31742335 chr22:31741944-31741953 chr22:31742494-31742508 chr22:31741926-31741937 chr22:31742269-31742280 chr22:31742313-31742335
17	POLR2A	chr22:31738497-31742182	SK-N-MC	brain:	n/a	n/a
18	TAF1	chr22:31741378-31742497	HepG2	liver:	n/a	n/a
19	CTCF	chr22:31741560-31741710	AG09309	skin:	n/a	n/a
20	MAX	chr22:31741526-31743876	GM12878	blood:	n/a	chr22:31743680-31743689 chr22:31742542-31742552 chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31743707-31743716 chr22:31741681-31741697
21	POLR2A	chr22:31741553-31744018	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr22:31739705-31744036	GM19193	blood:	n/a	n/a
23	POLR2A	chr22:31741614-31742592	A549	lung:	n/a	n/a
24	CTCF	chr22:31741592-31742134	GM19240	blood:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742043-31742056 chr22:31741936-31741952
25	POLR2A	chr22:31738983-31744048	GM12891	blood:	n/a	n/a
26	POLR2A	chr22:31739252-31742187	GM12892	blood:	n/a	n/a
27	TEAD4	chr22:31741533-31742193	ECC-1	luminal epithelium:	n/a	n/a
28	SIN3AK20	chr22:31741116-31744158	MCF-7	breast:	n/a	n/a
29	POLR2A	chr22:31741319-31742194	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr22:31740327-31743901	GM12892	blood:	n/a	n/a
31	CTCF	chr22:31740681-31742604	SK-N-SH	brain:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742361-31742370 chr22:31742043-31742056 chr22:31741936-31741952
32	MAX	chr22:31741051-31742591	H1-hESC	embryonic stem cell:	n/a	chr22:31742542-31742552 chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31741681-31741697
33	SMC3	chr22:31741137-31742224	SK-N-SH	brain:	n/a	chr22:31741900-31741910 chr22:31742046-31742056 chr22:31741941-31741951
34	MAX	chr22:31741256-31742608	ECC-1	luminal epithelium:	n/a	chr22:31742542-31742552 chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31741681-31741697
35	POLR2A	chr22:31741443-31742572	PFSK-1	brain:	n/a	n/a
36	ELF1	chr22:31741577-31742570	GM12878	blood:	n/a	chr22:31742340-31742353 chr22:31742268-31742277 chr22:31741610-31741622 chr22:31742342-31742353
37	MAX	chr22:31741606-31741757	K562	blood:	n/a	chr22:31741628-31741638 chr22:31741681-31741697
38	POLR2A	chr22:31740928-31744061	Hela-S3	cervix:	n/a	n/a
39	MAX	chr22:31741416-31742181	K562	blood:	n/a	chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31741681-31741697
40	MXI1	chr22:31741622-31743799	HepG2	liver:	n/a	n/a
41	POLR2A	chr22:31741362-31742655	H1-neurons	neurons:	n/a	n/a
42	MAZ	chr22:31740932-31744065	IMR90	lung:	n/a	chr22:31743680-31743689 chr22:31742542-31742552 chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31743707-31743716 chr22:31741681-31741697
43	USF1	chr22:31741467-31742154	ECC-1	luminal epithelium:	n/a	chr22:31741619-31741635
44	NFIC	chr22:31741526-31742539	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr22:31741295-31743876	H1-neurons	neurons:	n/a	n/a
46	MYC	chr22:31741555-31741673	GM12878	blood:	n/a	chr22:31741597-31741607 chr22:31741628-31741638
47	POLR2A	chr22:31737335-31744213	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr22:31741225-31743877	NB4	blood:	n/a	n/a
49	CTCF	chr22:31741582-31742135	MCF-7	breast:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742043-31742056 chr22:31741936-31741952
50	PAX5	chr22:31741569-31742185	GM12878	blood:	n/a	chr22:31741948-31741957

No.	Distal block	Cell Line	Cell type
1	chr22:31740767..31742486-chr9:131903487..131906077,2	MCF-7	breast:
2	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
3	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
4	chr22:31740048..31742045-chr22:32339591..32341543,2	MCF-7	breast:
5	chr22:31739411..31743940-chr22:31792561..31797746,12	K562	blood:
6	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:
7	chr11:62603352..62605695-chr22:31741151..31743312,2	MCF-7	breast:
8	chr12:111125271..111126771-chr22:31740803..31742794,2	MCF-7	breast:
9	chr22:31642721..31645848-chr22:31739450..31742880,5	MCF-7	breast:
10	chr2:27545885..27546452-chr22:31741459..31742305,2	Hela-S3	cervix:
11	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
12	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
13	chr22:31739363..31741917-chr22:31884740..31886779,4	MCF-7	breast:
14	chr22:31741632..31742462-chr22:31794953..31795605,3	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000213888	TF binding region
PATZ1	TF binding region
ENSG00000128254	Chromatin interaction
ENSG00000115204	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000119383	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000122986	Chromatin interaction
ENSG00000128245	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3425577	chr22:31740977-31743925	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
4	esv3430625	chr22:31741352-31743850	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31738200-31741800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr22:31738400-31743800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr22:31738800-31741800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:31738800-31743800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:31739200-31741800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr22:31739400-31741800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr22:31739600-31741800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr22:31739600-31742000	Flanking Active TSS	Right Ventricle	heart
9	chr22:31740000-31744200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr22:31740200-31741800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr22:31740600-31741800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr22:31740600-31741800	Flanking Active TSS	Liver	Liver
13	chr22:31740600-31741800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr22:31740600-31743800	Active TSS	Fetal Kidney	kidney
15	chr22:31740800-31741800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr22:31741000-31741800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:31741000-31741800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr22:31741000-31741800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:31741000-31741800	Flanking Active TSS	Fetal Muscle Trunk	muscle
20	chr22:31741000-31741800	Flanking Active TSS	Placenta	Placenta
21	chr22:31741000-31741800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr22:31741000-31741800	Active TSS	GM12878-XiMat	blood
23	chr22:31741000-31741800	Flanking Active TSS	NH-A	brain
24	chr22:31741000-31743000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:31741000-31743200	Transcr. at gene 5' and 3'	Right Atrium	heart
26	chr22:31741000-31743400	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr22:31741000-31743600	Active TSS	HSMMtube	muscle
28	chr22:31741000-31743800	Active TSS	Brain Substantia Nigra	brain
29	chr22:31741000-31744000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:31741000-31744200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr22:31741200-31741800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr22:31741200-31741800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:31741200-31741800	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr22:31741200-31741800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
35	chr22:31741200-31741800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:31741200-31741800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:31741200-31741800	Flanking Active TSS	Left Ventricle	heart
38	chr22:31741200-31741800	Active TSS	Stomach Mucosa	stomach
39	chr22:31741200-31741800	Flanking Active TSS	HMEC	breast
40	chr22:31741200-31742000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:31741200-31742000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
42	chr22:31741200-31742800	Active TSS	Primary T cells from cord blood	blood
43	chr22:31741200-31743000	Active TSS	Osteobl	bone
44	chr22:31741200-31743200	Active TSS	Fetal Thymus	thymus
45	chr22:31741200-31743200	Active TSS	HepG2	liver
46	chr22:31741200-31743400	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr22:31741200-31743600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:31741200-31743600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:31741200-31743600	Active TSS	Brain Angular Gyrus	brain
50	chr22:31741200-31743600	Active TSS	NHDF-Ad	bronchial

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